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Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.
Tan M, Liu X, Zhang Y, Yin Y, Chen T, Li Y, Feng L, Zhu B, Xu C, Tang C, Sun M, Jia L, Jin W, Fan C, Huang H, Wang X, Feng J, Zou H, Han L, Miao J, Zhu B, Huang C, Huang Y. Tan M, et al. Among authors: fan c. PLoS One. 2024 Oct 22;19(10):e0310517. doi: 10.1371/journal.pone.0310517. eCollection 2024. PLoS One. 2024. PMID: 39436963 Free PMC article.
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T, Fan C, Huang Y, Feng J, Zhang Y, Miao J, Wang X, Li Y, Huang C, Jin W, Tang C, Feng L, Yin Y, Zhu B, Sun M, Liu X, Xiang J, Tan M, Jia L, Chen L, Huang H, Peng H, Sun X, Gu X, Peng Z, Zhu B, Zou H, Han L. Chen T, et al. Among authors: fan c. JAMA Netw Open. 2023 Sep 5;6(9):e2331162. doi: 10.1001/jamanetworkopen.2023.31162. JAMA Netw Open. 2023. PMID: 37656460 Free PMC article.
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S, Xiang J, Fan C, Asan, Shang X, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Guo F, Wang Y, Zhong W, Zhu Y, Wang Y, Chen C, Li Y, Huang H, Mao M, Yin Y, Wang J, Yang H, Xu X, Sun J, Peng Z. Zhao S, et al. Among authors: fan c. Eur J Hum Genet. 2019 Feb;27(2):254-262. doi: 10.1038/s41431-018-0253-9. Epub 2018 Oct 1. Eur J Hum Genet. 2019. PMID: 30275481 Free PMC article.
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
Zhao S, Wang W, Wang Y, Han R, Fan C, Ni P, Guo F, Zeng F, Yang Q, Yang Y, Sun Y, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Shang X, Xu X, Sun J, Peng Z. Zhao S, et al. Among authors: fan c. Eur J Hum Genet. 2021 Jan;29(1):194-204. doi: 10.1038/s41431-020-00714-8. Epub 2020 Sep 3. Eur J Hum Genet. 2021. PMID: 32884118 Free PMC article.
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Zhou G, Zhou M, Zeng F, Zhang N, Sun Y, Qiao Z, Guo X, Zhou S, Yun G, Xie J, Wang X, Liu F, Fan C, Wang Y, Fang Z, Tian Z, Dai W, Sun J, Peng Z, Song L. Zhou G, et al. Among authors: fan c. Medicine (Baltimore). 2022 Mar 11;101(10):e28972. doi: 10.1097/MD.0000000000028972. Medicine (Baltimore). 2022. PMID: 35451387 Free PMC article.
Test development, optimization and validation of a WGS pipeline for genetic disorders.
Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W. Yang Z, et al. Among authors: fan c. BMC Med Genomics. 2023 Apr 5;16(1):74. doi: 10.1186/s12920-023-01495-x. BMC Med Genomics. 2023. PMID: 37020281 Free PMC article.
8,022 results